Korean J Otorhinolaryngol-Head Neck Surg.
2008 Sep;51(9):833-837.
A Case of Type 2 Usher Syndrome
- Affiliations
-
- 1Department of Otorhinolaryngology-Head and Neck Surgery, Sungkyunkwan University School of Medicine, Masan Samsung Hospital, Masan, Korea. drboo@hanmail.net
- 2Department of Otorhinolaryngology, Wallace Memorial Baptist Hospital, Busan, Korea.
Abstract
- The Usher syndrome is an autosomal recessive disorder that cause bilateral sensorineural hearing loss and progressive loss of vision. It is genetically heterogeneous and is the most frequent cause of hereditary deafness and blindness in human. There are three types of Usher syndrome that can be distinguished clinically and into different subtypes. Type 2 Usher syndrome is the most common form and less severe than Type 1. It is characterized by congenital, moderate to severe, high frequency sloping hearing loss, retinitis pigmentosa which is typically diagnosed in late adolescence, and normal vestibular function. Recently, we have experienced a case of clinically diagnosed Type 2 Usher syndrome in a 34 years old female. We report this case with a brief review of literature. This is the first Type 2 Usher Syndrome to be reported in the otolaryngologic field in Korea.
